Related Experiment Video
Updated: Apr 29, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Communicating risk with relatives in a familial hypercholesterolemia cascade screening program: a summary of the
1Melanie Allison, MSN, RN, ACNP-BC DNP Student, School of Nursing, Johns Hopkins University, Baltimore, Maryland; Instructor, School of Nursing, Vanderbilt University, Nashville, Tennessee.
Insights
Direct provider communication, particularly mailed letters, is the most effective method for contacting relatives during familial hypercholesterolemia (FH) cascade screening. This approach increases the likelihood of at-risk individuals seeking necessary medical evaluation.
Area of Science:
- Cardiovascular Genetics
- Public Health
- Medical Communication
Background:
- Familial hypercholesterolemia (FH) is a prevalent, inherited condition affecting 600,000 in the US.
- Untreated FH significantly increases the risk of early coronary heart disease.
- Cascade screening is crucial for identifying at-risk relatives, but optimal contact methods are undefined.
Purpose of the Study:
- To identify the most effective communication strategy for engaging at-risk populations in disease screening.
- To guide clinicians on successful methods for cascade screening relatives of FH patients.
Main Methods:
- An exhaustive literature search was conducted.
- The search focused on successful communication methods in contact tracing and cascade screening.
Main Results:
- Provider-initiated direct contact, especially via mailed letters, showed the greatest impact.
- This method resulted in higher rates of relatives undergoing genetic screening compared to other approaches.
Conclusions:
- Written communication from a healthcare provider is key to encouraging FH relatives to attend screening.
- Provider-sent letters are a highly effective tool for FH cascade screening outreach.
Background:
Familial hypercholesterolemia (FH) is the most common inherited, potentially deadly disease, affecting an estimated 600 000 people in the United States. When FH is undiagnosed and untreated, it is linked with early coronary heart disease in more than 50% of men by age 50 years and 30% of women by age 60 years. Cascade screening is the most cost effective method available to identify family members with this disease; however, cascade screening guidelines do not specify best methods to use when contacting relatives. Therefore, I conducted an exhaustive search of the literature to find the most successful communication methods used in contact tracing and cascade screening.
Purpose:
The purpose of this summary of the evidence was to identify the communication method with greatest impact in having at-risk populations present to a provider for disease screening. These findings will inform clinicians of the most successful methods to implement when cascade screening relatives of known FH patients.
Conclusions:
Most studies support direct contact of relatives via letter, mailed from the provider. Provider-initiated communication more often resulted in relatives being tested when compared with other methods of communication.
Clinical Implications:
On the basis of the literature, family members of current FH patients will be more likely to present to a provider for cascade screening if they receive written communication from the provider.
Related Concept Videos
Atherosclerosis III: Management
Coronary Artery Disease IV: Preventive Measures
Pharmacogenomics: Identification of New Drug Targets
Atherosclerosis IV: Nursing Management
Cholesterol: Significance and Regulation
Considering cholesterol and...
Relative Risk

